Variant report

Variant	nsv949041
Chromosome Location	chrX:74523871-74645058
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:183)
CpG islands
(count:122)
Chromatin interactive
region (count:3)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:183 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chrX:74578832-74578865	GM12878	blood:	n/a	n/a
2	BHLHE40	chrX:74523877-74523904	K562	blood:	n/a	n/a
3	CEBPB	chrX:74523576-74523952	IMR90	lung:	n/a	n/a
4	CEBPB	chrX:74579700-74579984	HepG2	liver:	n/a	chrX:74579811-74579822 chrX:74579813-74579822 chrX:74579811-74579824 chrX:74579812-74579823
5	CEBPB	chrX:74579701-74579962	IMR90	lung:	n/a	chrX:74579811-74579822 chrX:74579813-74579822 chrX:74579811-74579824 chrX:74579812-74579823
6	CEBPB	chrX:74579714-74579944	A549	lung:	n/a	chrX:74579811-74579822 chrX:74579813-74579822 chrX:74579811-74579824 chrX:74579812-74579823
7	CEBPB	chrX:74579749-74579968	K562	blood:	n/a	chrX:74579811-74579822 chrX:74579813-74579822 chrX:74579811-74579824 chrX:74579812-74579823
8	CTCF	chrX:74546689-74546721	GM10266	blood:	n/a	n/a
9	CTCF	chrX:74549306-74549383	ProgFib	skin:	n/a	n/a
10	CTCF	chrX:74583350-74583381	GM10248	blood:	n/a	n/a
11	CTCF	chrX:74619530-74619619	ProgFib	skin:	n/a	n/a
12	CTCF	chrX:74585882-74585927	Pancreas_OC	pancreas:	n/a	n/a
13	CTCF	chrX:74604295-74604318	GM10266	blood:	n/a	n/a
14	CTCF	chrX:74589963-74590057	GM10248	blood:	n/a	n/a
15	CTCF	chrX:74643707-74643782	LNCaP	prostate:	n/a	n/a
16	CTCF	chrX:74567605-74567714	LNCaP	prostate:	n/a	n/a
17	CTCF	chrX:74526800-74526879	ProgFib	skin:	n/a	n/a
18	CTCF	chrX:74616143-74616257	GM20000	blood:	n/a	n/a
19	CTCF	chrX:74538529-74538643	Spleen_OC	spleen:	n/a	n/a
20	CTCF	chrX:74612850-74612904	Medullo	brain:	n/a	n/a
21	CTCF	chrX:74546996-74547084	LNCaP	prostate:	n/a	n/a
22	CTCF	chrX:74612852-74612937	GM20000	blood:	n/a	n/a
23	CTCF	chrX:74582401-74582513	LNCaP	prostate:	n/a	n/a
24	CTCF	chrX:74586376-74586458	LNCaP	prostate:	n/a	n/a
25	CTCF	chrX:74572996-74573000	Medullo	brain:	n/a	n/a
26	CTCF	chrX:74545044-74545116	GM10248	blood:	n/a	n/a
27	CTCF	chrX:74551123-74551246	Pancreas_OC	pancreas:	n/a	n/a
28	CTCF	chrX:74641540-74641690	HBMEC	blood vessel:	n/a	n/a
29	CTCF	chrX:74583237-74583318	GM13976	blood:	n/a	n/a
30	CTCF	chrX:74547782-74547863	GM20000	blood:	n/a	n/a
31	CTCF	chrX:74556329-74556379	Pancreas_OC	pancreas:	n/a	n/a
32	CTCF	chrX:74583296-74583336	GM10248	blood:	n/a	n/a
33	CTCF	chrX:74606400-74606433	LNCaP	prostate:	n/a	n/a
34	CTCF	chrX:74644049-74644132	GM20000	blood:	n/a	n/a
35	CTCF	chrX:74568869-74568921	LNCaP	prostate:	n/a	n/a
36	CTCF	chrX:74541460-74541610	HEK293	kidney:	n/a	n/a
37	CTCF	chrX:74547651-74547691	Lung_OC	lung:	n/a	n/a
38	CTCF	chrX:74590459-74590496	LNCaP	prostate:	n/a	n/a
39	CTCF	chrX:74614296-74614408	Pancreas_OC	pancreas:	n/a	n/a
40	CTCF	chrX:74529333-74529373	GM10248	blood:	n/a	n/a
41	CTCF	chrX:74541480-74541630	GM12873	blood:	n/a	n/a
42	CTCF	chrX:74638693-74638768	Pancreas_OC	pancreas:	n/a	n/a
43	CTCF	chrX:74626447-74626519	GM10266	blood:	n/a	n/a
44	CTCF	chrX:74541500-74541650	HRPEpiC	eye:	n/a	n/a
45	CTCF	chrX:74616961-74616989	ProgFib	skin:	n/a	n/a
46	CTCF	chrX:74566498-74566583	GM20000	blood:	n/a	n/a
47	CTCF	chrX:74613146-74613205	GM13976	blood:	n/a	n/a
48	E2F4	chrX:74626316-74626503	MCF10A-Er-Src	breast:	n/a	n/a
49	E2F4	chrX:74558258-74558366	MCF10A-Er-Src	breast:	n/a	n/a
50	E2F4	chrX:74576037-74576237	MCF10A-Er-Src	breast:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chrX:74590752-74590802	HL-60	blood:	n/a
2	chrX:74590752-74590802	HCT-116	colon:	n/a
3	chrX:74590752-74590802	NHBE	bronchial:	n/a
4	chrX:74524038-74524088	HCT-116	colon:	n/a
5	chrX:74590752-74590802	IMR90	lung:	fetal
6	chrX:74590752-74590802	PFSK-1	brain:	n/a
7	chrX:74590752-74590802	ECC-1	luminal epithelium:	n/a
8	chrX:74590752-74590802	HMEC	breast:	n/a
9	chrX:74524038-74524088	HEK293	kidney:	embryo
10	chrX:74590752-74590802	GM12891	blood:	n/a
11	chrX:74524038-74524088	HAEpiC	amniotic membrane:	n/a
12	chrX:74524038-74524088	Hela-S3	cervix:	n/a
13	chrX:74524038-74524088	Caco-2	colon:	n/a
14	chrX:74524038-74524088	HepG2	liver:	n/a
15	chrX:74590752-74590802	HAEpiC	amniotic membrane:	n/a
16	chrX:74590752-74590802	NH-A	brain:	n/a
17	chrX:74524038-74524088	AG04449	skin:	fetal
18	chrX:74524038-74524088	GM12891	blood:	n/a
19	chrX:74590752-74590802	U87	brain:	n/a
20	chrX:74590752-74590802	HRCEpiC	kidney:	n/a
21	chrX:74524038-74524088	HIPEpiC	eye:	n/a
22	chrX:74524038-74524088	GM12878	blood:	n/a
23	chrX:74524038-74524088	PrEC	prostate:	n/a
24	chrX:74590752-74590802	AG09309	skin:	n/a
25	chrX:74524038-74524088	AG09319	gingival:	n/a
26	chrX:74524038-74524088	LNCaP	prostate:	n/a
27	chrX:74590752-74590802	BJ	skin:	n/a
28	chrX:74524038-74524088	HNPCEpiC	eye:	n/a
29	chrX:74524038-74524088	H1-hESC	embryonic stem cell:	embryo
30	chrX:74524038-74524088	SK-N-SH	brain:	n/a
31	chrX:74524038-74524088	U87	brain:	n/a
32	chrX:74590752-74590802	HNPCEpiC	eye:	n/a
33	chrX:74524038-74524088	ovcar-3	ovarian:	n/a
34	chrX:74590752-74590802	SK-N-SH	brain:	n/a
35	chrX:74590752-74590802	RPTEC	kidney:	n/a
36	chrX:74524038-74524088	GM12892	blood:	n/a
37	chrX:74590752-74590802	AG04450	lung:	fetal
38	chrX:74524038-74524088	BJ	skin:	n/a
39	chrX:74524038-74524088	ProgFib	skin:	n/a
40	chrX:74524038-74524088	NH-A	brain:	n/a
41	chrX:74590752-74590802	NT2-D1	testis:	n/a
42	chrX:74524038-74524088	AG10803	skin:	n/a
43	chrX:74524038-74524088	HPAEpiC	pulmonary alveolar:	n/a
44	chrX:74524038-74524088	SK-N-MC	brain:	n/a
45	chrX:74524038-74524088	K562	blood:	n/a
46	chrX:74524038-74524088	PANC-1	pancreas:	n/a
47	chrX:74590752-74590802	ProgFib	skin:	n/a
48	chrX:74590752-74590802	PANC-1	pancreas:	n/a
49	chrX:74524038-74524088	T-47D	breast:	n/a
50	chrX:74590752-74590802	SKMC	muscle:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:22218002..22218601-chrX:74591240..74592111,2	MCF-7	breast:
2	chrX:74643612..74646564-chrX:74648573..74650200,2	K562	blood:
3	chrX:74521044..74522669-chrX:74524864..74527792,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZDHHC15-3	chrX:74546607-74547834	NONHSAT137658
2	lnc-ZDHHC15-1	chrX:74590369-74591027	NONHSAT137659
3	lnc-ZDHHC15-1	chrX:74588262-74590358	NONHSAT137659
4	lnc-UPRT-2	chrX:74544124-74546232	NONHSAT137657

No data

Variant related genes	Relation type
ENSG00000232186	TF binding region
RPL21P134	TF binding region
ENSG00000232186	CpG island
RPL21P134	CpG island

Extended variants
information (count: 1558 )
Associated
traits (count: 45 )

Variant overlapped rSNPs/rCNVs (count:1558 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs5937351	chrX:74523871-74523872	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs201514113	chrX:74523954-74523955	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs199876551	chrX:74524272-74524273	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs6647687	chrX:74524280-74524281	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs555723197	chrX:74524551-74524552	Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183906622	chrX:74524571-74524572	Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs41307252	chrX:74524610-74524611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs188442476	chrX:74524640-74524641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs574173620	chrX:74524792-74524793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs181252627	chrX:74525219-74525220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs541387104	chrX:74525220-74525221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs184922165	chrX:74525339-74525340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs150005784	chrX:74525378-74525379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs559600663	chrX:74525468-74525469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs188169274	chrX:74525550-74525551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs182090617	chrX:74525634-74525635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs375996881	chrX:74525636-74525637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs375304169	chrX:74525728-74525729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs187640763	chrX:74525899-74525900	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs191512036	chrX:74525958-74525959	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs145229532	chrX:74526107-74526108	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs369040328	chrX:74526136-74526137	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs376066879	chrX:74526312-74526313	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs183774562	chrX:74526318-74526319	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs76172225	chrX:74526418-74526419	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs76547845	chrX:74526432-74526433	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs186171785	chrX:74526481-74526482	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190097979	chrX:74526592-74526593	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182699621	chrX:74526606-74526607	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs186794051	chrX:74526624-74526625	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs549296714	chrX:74526789-74526790	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs374493913	chrX:74526891-74526892	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191199168	chrX:74527040-74527041	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183812347	chrX:74527542-74527543	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs189176195	chrX:74527713-74527714	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs5938016	chrX:74527794-74527795	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs5938017	chrX:74527888-74527889	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs12835320	chrX:74527895-74527896	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs66692538	chrX:74527972-74527973	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs141851020	chrX:74528317-74528318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs139636826	chrX:74528346-74528347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs111619379	chrX:74528649-74528650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370871316	chrX:74528671-74528672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs184221989	chrX:74528718-74528719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187411712	chrX:74528735-74528736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs138464213	chrX:74528736-74528737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs191490977	chrX:74528932-74528933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs184151247	chrX:74529038-74529039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs189131214	chrX:74529057-74529058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs181027294	chrX:74529117-74529118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:45)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Burkitt''s lymphoma	20823134	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Astrocytoma	17387387	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Metanephric adenoma	20802469	CNVD
Medulloblastoma	21979893	CNVD
Schizophrenia	23904455	CNVD
Olfactory neuroblastoma	18408657	CNVD
infertile	22614455	CNVD
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	22286061	CNVD
Autism	22495311	CNVD
Cancer	20581869	CNVD
Multiple myeloma	20724749	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Follicular lymphoma	20505157	CNVD
primary effusion lymphomas	17116491	CNVD
Testicular germ cell tumor	18059402	CNVD
Testicular cancer	18059402	CNVD
Seminomas	18059402	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	22429812	CNVD
Cancer	16751803	CNVD
Lujan-Fryns syndrom	21572526	CNVD
Opitz-Kaveggia syndrome	21572526	CNVD
Cerebellar atrophy	21569638	CNVD
X-linked sideroblastic anemia	21569638	CNVD
Mental retardation	21572526	CNVD
ATR-X Syndrome	22470819	CNVD
Breast cancer	21611746	CNVD
Breast cancer	21364760	CNVD
Premature ovarian failure	20952765	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:617 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:74495200-74528800	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chrX:74495800-74527800	Weak transcription	Thymus	Thymus
3	chrX:74504600-74547600	Weak transcription	Brain Hippocampus Middle	brain
4	chrX:74505200-74532400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chrX:74508200-74527200	Weak transcription	Fetal Lung	lung
6	chrX:74511800-74526400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chrX:74512000-74553000	Weak transcription	Primary B cells from cord blood	blood
8	chrX:74512800-74539400	Weak transcription	Primary B cells from peripheral blood	blood
9	chrX:74513800-74539600	Weak transcription	GM12878-XiMat	blood
10	chrX:74514400-74533200	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chrX:74514600-74549600	Weak transcription	Psoas Muscle	Psoas
12	chrX:74515200-74529200	Weak transcription	Small Intestine	intestine
13	chrX:74515200-74539400	Weak transcription	Primary T cells from cord blood	blood
14	chrX:74515400-74539800	Weak transcription	HSMMtube	muscle
15	chrX:74515800-74538600	Weak transcription	Spleen	Spleen
16	chrX:74515800-74539000	Weak transcription	Fetal Muscle Leg	muscle
17	chrX:74516000-74526200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chrX:74516000-74526400	Weak transcription	Fetal Stomach	stomach
19	chrX:74516000-74538600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chrX:74516000-74539000	Weak transcription	H1 Cell Line	embryonic stem cell
21	chrX:74516000-74539400	Weak transcription	Stomach Smooth Muscle	stomach
22	chrX:74516200-74526400	Weak transcription	Fetal Intestine Small	intestine
23	chrX:74516200-74528200	Weak transcription	Esophagus	oesophagus
24	chrX:74516200-74529400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chrX:74516200-74538400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chrX:74516200-74538800	Weak transcription	Ovary	ovary
27	chrX:74516200-74540000	Weak transcription	Pancreas	Pancrea
28	chrX:74516800-74528200	Weak transcription	Fetal Thymus	thymus
29	chrX:74516800-74536600	Weak transcription	Brain Germinal Matrix	brain
30	chrX:74517000-74526600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chrX:74517200-74524400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chrX:74517200-74526400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chrX:74517200-74554600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chrX:74517400-74528600	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chrX:74518000-74527000	Weak transcription	Brain Anterior Caudate	brain
36	chrX:74518000-74539400	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chrX:74518200-74539200	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chrX:74518400-74527600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chrX:74518600-74538600	Weak transcription	Brain Angular Gyrus	brain
40	chrX:74518800-74524400	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chrX:74519400-74524000	Strong transcription	Primary T helper cells PMA-I stimulated	--
42	chrX:74519400-74526400	Weak transcription	Primary hematopoietic stem cells	blood
43	chrX:74519400-74538800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chrX:74519600-74524000	Strong transcription	Dnd41	blood
45	chrX:74519600-74524200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chrX:74519800-74539200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chrX:74519800-74539200	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chrX:74520000-74527200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chrX:74520000-74538800	Weak transcription	Gastric	stomach
50	chrX:74520200-74554400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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